ClinGen Allele Registry
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Canonical Allele Identifier:
PA2828094528
Gene: TSC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
468098
ClinVar RCV Id:
RCV000548577
RCV000571084
RCV001546708
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001350457.1:p.Ile1452Val
CA051585
NM_001363528.2:c.4354A>G